Results 131 to 140 of about 84,866 (259)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Genotyping of selected germline adaptive immune system loci using short-read sequencing data. [PDF]

Genome Res
Ford MKB, Hari A, Yeager M, Mirabello L, Chanock S, Numanagić I, COVNET Consortium, Sahinalp SC.   +7 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

The intelligent development and preservation of folk sports culture under artificial intelligence. [PDF]

Sci Rep
Li Z, Samsudin SB, Farizan NH, Abidin ZAZ, Zhang L.   +4 more
europepmc   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

py_ped_sim: a flexible forward pedigree and genetic simulator for complex family pedigree analysis. [PDF]

BMC Bioinformatics
Guardado M, Perez C, Campana S, Chavez Rojas B, Magaña J, Jackson S, Samperio E, Hernandez S, Syas K, Hernandez RD, Zavala EI, Rohlfs RV.   +11 more
europepmc   +1 more source

Nucleic Acid‐Based Molecular Machines for Biological Applications

Advanced NanoBiomed Research, EarlyView.
Molecular machines are devices assembled from molecules with specific functions. In this review, the development of DNA nanostructures, which are then assembled into molecular machines, is summarized. Their classification and biological applications, such as biosensing, targeted therapy, and molecular circuits are introduced.
Yirong Guo, Xiaolei Zuo, Fangfei Yin
wiley   +1 more source

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia. [PDF]

Data Brief
Harsono IW, Ariani Y, Benyamin B, Fadilah F, Pujianto DA, Hafifah CN, Prawitasari T.   +6 more
europepmc   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, EarlyView.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa. [PDF]

Invest Ophthalmol Vis Sci
Stephenson KAJ, Tse T, Hwang J, Kavetskyi A, Dhanji SR, Kolawole OU, Gregory-Evans CY, Pakzad-Vaezi K, Mammo ZN, Gregory-Evans K, Ju MJ.   +10 more
europepmc   +1 more source